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Abstract
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a polyglutamine
stretch in the huntingtin protein. Today, more than 15 years after the genetic defect
underlying HD was discovered, the pathogenesis is still not well understood and there
is no adequate treatment. Research into this disorder has conventionally focused on
neurological symptoms and brain pathology, particularly neurodegeneration in the basal
ganglia and cerebral cortex. Mutant huntingtin is, however, ubiquitously expressed
throughout the body. Indeed, contrary to earlier thinking, HD is associated with abnormalities
in peripheral tissues. These abnormal changes are not all secondary to brain dysfunction,
but most seem to be directly caused by expression of mutant huntingtin in peripheral
tissues. In this article, we highlight this emerging field of research and how it
might affect our understanding of the pathogenesis of this disease, the development
of novel biomarkers of disease progression, and the identification of new potential
treatments.